VWS1
MCID: VND007
MIFTS: 57

Van Der Woude Syndrome 1 (VWS1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Van Der Woude Syndrome 1

MalaCards integrated aliases for Van Der Woude Syndrome 1:

Name: Van Der Woude Syndrome 1 58 76
Van Der Woude Syndrome 58 12 77 54 26 60 38 30 13 56 6 45 15 74
Lip-Pit Syndrome 58 12 26 60 76
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 58 54 26 76
Vdws 58 54 26 76
Lps 58 54 76
Vws 54 26 60
Vws1 58 76
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 45
Cleft Lip/palate with Mucous Cysts of Lower Lip 60
Van Der Woude Syndrome, Type 1 41
Lip-Pit Syndrome; Lps; Pit 58
Lip Pit Syndrome 54
Lip Pit 30
Pit 76

Characteristics:

Orphanet epidemiological data:

60
van der woude syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Finland),1-9/100000 (France),1-9/100000 (Australia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
van der woude syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060239
OMIM 58 119300
KEGG 38 H01927
NCIt 51 C74986
SNOMED-CT 69 79261008
ICD10 34 Q38.0
MESH via Orphanet 46 C536528
ICD10 via Orphanet 35 Q38.0
UMLS via Orphanet 75 C0175697
Orphanet 60 ORPHA888

Summaries for Van Der Woude Syndrome 1

NIH Rare Diseases : 54 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion. Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.

MalaCards based summary : Van Der Woude Syndrome 1, also known as van der woude syndrome, is related to popliteal pterygium syndrome and van der woude syndrome 2. An important gene associated with Van Der Woude Syndrome 1 is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Signaling by Slit and Hypothetical Craniofacial Development Pathway. The drugs Adalimumab and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, salivary gland and brain, and related phenotypes are cleft palate and lower lip pit

Disease Ontology : 12 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

Genetics Home Reference : 26 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.

OMIM : 58 Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. (119300)

UniProtKB/Swiss-Prot : 76 Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Wikipedia : 77 Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits,... more...

Related Diseases for Van Der Woude Syndrome 1

Diseases in the Van Der Woude Syndrome 1 family:

Van Der Woude Syndrome 2

Diseases related to Van Der Woude Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 572)
# Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 32.1 TFAP2A RIPK4 IRF6 GRHL3
2 van der woude syndrome 2 32.0 GRHL3 CFAP57
3 chromosome 3pter-p25 deletion syndrome 31.3 SRGAP3 SRGAP2
4 cleft lip 30.9 TFAP2A IRF6 GRHL3
5 cleft palate, isolated 30.7 TFAP2A IRF6 GRHL3
6 nemaline myopathy 3 12.5
7 remitting seronegative symmetrical synovitis with pitting edema 12.4
8 hypertelorism, preauricular sinus, punctal pits, and deafness 12.3
9 ear pits, posterior helical 12.3
10 optic disc pit 12.2
11 annular lichen planus 12.1
12 annular atrophic lichen planus 11.9
13 actinic lichen planus 11.9
14 atrophic lichen planus 11.9
15 rare lichen planus 11.8
16 lachiewicz sibley syndrome 11.6
17 kuster syndrome 11.5
18 lichen planus 11.5
19 reticulate acropigmentation of kitamura 11.5
20 lipoid proteinosis of urbach and wiethe 11.5
21 lichen planus pemphigoides 11.5
22 irf6-related disorders 11.5
23 preauricular fistulae, congenital 11.4
24 dental caries 11.4
25 lrba deficiency 11.4
26 amelogenesis imperfecta 11.4
27 lichen planus pigmentosus 11.3
28 linear lichen planus 11.3
29 psoriatic arthritis 11.2
30 basal cell nevus syndrome 11.2
31 preauricular sinus 11.2
32 branchiootorenal syndrome 1 11.2
33 beckwith-wiedemann syndrome 11.2
34 molluscum contagiosum 11.2
35 darier-white disease 11.2
36 vulvovaginal gingival syndrome 11.2
37 coloboma of optic nerve 11.0
38 multiple self-healing squamous epithelioma 11.0
39 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.0
40 amelogenesis imperfecta, type ih 11.0
41 acrokeratosis verruciformis 10.9
42 amelogenesis imperfecta, type ib 10.9
43 amelogenesis imperfecta, type ia 10.9
44 cat eye syndrome 10.9
45 foveal hypoplasia 1 10.9
46 nail disorder, nonsyndromic congenital, 1 10.9
47 witkop syndrome 10.9
48 trichodentoosseous syndrome 10.9
49 atrophoderma vermiculata 10.9
50 deafness, conductive, with malformed external ear 10.9

Graphical network of the top 20 diseases related to Van Der Woude Syndrome 1:



Diseases related to Van Der Woude Syndrome 1

Symptoms & Phenotypes for Van Der Woude Syndrome 1

Human phenotypes related to Van Der Woude Syndrome 1:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
2 lower lip pit 60 33 frequent (33%) Frequent (79-30%) HP:0000196
3 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
4 cleft upper lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000204
5 abnormal salivary gland morphology 33 occasional (7.5%) HP:0010286
6 bifid uvula 33 HP:0000193
7 abnormality of the salivary glands 60 Occasional (29-5%)
8 lip pit 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
cleft uvula

Head And Neck Teeth:
hypodontia

Clinical features from OMIM:

119300

MGI Mouse Phenotypes related to Van Der Woude Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 ACTA1 GRHL3 IRF6 RIPK4 TFAP2A
2 limbs/digits/tail MP:0005371 9.35 CNTN2 GRHL3 IRF6 RIPK4 TFAP2A
3 mortality/aging MP:0010768 9.28 ACTA1 C1QBP F13A1 GRHL3 IRF6 RIPK4

Drugs & Therapeutics for Van Der Woude Syndrome 1

Drugs for Van Der Woude Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3 Vedolizumab Approved Phase 4 943609-66-3
4 Immunoglobulins Phase 4
5 Anti-Inflammatory Agents Phase 4,Phase 3
6 Antibodies Phase 4
7 Antirheumatic Agents Phase 4,Phase 3
8 Protective Agents Phase 4
9 Cardiotonic Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Dopamine Agents Phase 4
12 Autonomic Agents Phase 4
13 Neurotransmitter Agents Phase 4
14 Sympathomimetics Phase 4
15 Immunosuppressive Agents Phase 4
16 Gastrointestinal Agents Phase 4
17
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
18 Topoisomerase Inhibitors Phase 3
19 Cytochrome P-450 CYP1A2 Inhibitors Phase 3
20 Anti-Infective Agents Phase 3
21 Cytochrome P-450 Enzyme Inhibitors Phase 3
22 Anti-Bacterial Agents Phase 3
23
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
24 Visilizumab Investigational Phase 1, Phase 2 219716-33-3
25 Muromonab-CD3 Phase 1, Phase 2
26 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
27 Albumin-Bound Paclitaxel Phase 1, Phase 2
28 Antimitotic Agents Phase 1, Phase 2
29
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 6857599 5310940 9887054 43805
30
s 1 (combination) Phase 1
31
Infliximab Approved 170277-31-3
32 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lengthening Adalimumab Dosing Interval in Quiescent Crohn's Disease Patients Recruiting NCT03172377 Phase 4
2 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4 Dopamine infusion to brain dead organ donors
3 An Open Label Phase 4 Study to Evaluate Efficacy of Early Versus Late Use of Vedolizumab in Ulcerative Colitis Recruiting NCT02646657 Phase 4 Vedolizumab 300 mg
4 A Study to Evaluate Efficacy, of Early Versus Late Use of Vedolizumab in Crohn's Disease: the LOVE-CD Study Recruiting NCT02646683 Phase 4 vedolizumab
5 Adalimumab in Combination With Ciprofloxacin/Placebo Treatment of Perianal Fistulas in Crohn's Completed NCT00736983 Phase 3 adalimumab;ciprofloxacin
6 A Pilot Study of FFP104 in Subjects With Crohn's Disease Unknown status NCT02465944 Phase 1, Phase 2 FFP104;Placebo
7 NI-0401 in Active Crohn's Disease Completed NCT00630643 Phase 1, Phase 2 Placebo
8 Regorafenib in Combination With Paclitaxel in Advanced Oesophagogastric Carcinoma Recruiting NCT02406170 Phase 1, Phase 2 Regorafenib;Paclitaxel
9 Feasibility Study of Adjuvant Treatment With S-1 and Oxaliplatin in Patients With Resectable Esophageal Cancer Recruiting NCT02347904 Phase 1 S-1 and Oxaliplatin
10 Biomarkers of Anti-TNF Treatment in IBD Completed NCT01971970

Search NIH Clinical Center for Van Der Woude Syndrome 1

Cochrane evidence based reviews: van der woude syndrome

Genetic Tests for Van Der Woude Syndrome 1

Genetic tests related to Van Der Woude Syndrome 1:

# Genetic test Affiliating Genes
1 Van Der Woude Syndrome 30
2 Lip Pit 30

Anatomical Context for Van Der Woude Syndrome 1

MalaCards organs/tissues related to Van Der Woude Syndrome 1:

42
Heart, Salivary Gland, Brain, Testes, Tongue

Publications for Van Der Woude Syndrome 1

Articles related to Van Der Woude Syndrome 1:

(show top 50) (show all 156)
# Title Authors Year
1
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. ( 29708799 )
2019
2
Treatment of lower lip pits in Van der Woude syndrome: a systematic review. ( 29089202 )
2018
3
Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. ( 29115498 )
2018
4
Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. ( 29569458 )
2018
5
Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families. ( 29666346 )
2018
6
Congenital lower lip pits: Van der Woude syndrome. ( 30607232 )
2018
7
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
8
Surgical management of lower lip pits in Van der Woude syndrome. ( 28893716 )
2017
9
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report. ( 28875142 )
2017
10
A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. ( 27243668 )
2016
11
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. ( 27115562 )
2016
12
Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort. ( 27129939 )
2016
13
Multidisciplinary management of a patient with van der Woude syndrome: A case report. ( 28012331 )
2016
14
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index. ( 27321409 )
2016
15
Congenital Symmetrical Lower Lip Pits: Van der Woude Syndrome. ( 30838101 )
2015
16
Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate. ( 25516228 )
2014
17
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. ( 24647295 )
2014
18
Van der woude syndrome (lip pit-cleft lip syndrome). ( 24461788 )
2014
19
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
20
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development. ( 24360809 )
2014
21
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. ( 25579819 )
2014
22
Van der woude syndrome with short review of the literature. ( 25050184 )
2014
23
Van der Woude syndrome: Management in the mixed dentition. ( 23853466 )
2013
24
Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. ( 23713753 )
2013
25
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
26
De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. ( 23915469 )
2013
27
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results. ( 23290085 )
2013
28
Congenital lower lip pits (van der Woude syndrome): what pathologists need to know. ( 23947719 )
2013
29
Van der Woude syndrome: report of two cases with supplementary findings. ( 24025891 )
2013
30
An alternative technique using a gutta percha points and blue methylene to excision of congenital fistula of lower lip in patient with Van der Woude syndrome. ( 23037784 )
2012
31
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome. ( 21995291 )
2012
32
Van der Woude syndrome- a syndromic form of orofacial clefting. ( 24558537 )
2012
33
Van der woude syndrome associated with hypodontia: a rare clinical entity. ( 23326687 )
2012
34
Van der Woude syndrome with an unusual intraoral finding. ( 21525698 )
2011
35
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. ( 21574244 )
2011
36
Monozygotic twins with variable expression of Van der Woude syndrome. ( 21739575 )
2011
37
IRF6 mutations may not be a major cause of Van der Woude syndrome in India. ( 20845047 )
2011
38
Oral and maxillofacial pathology. Case of the month. Van der Woude syndrome (VWS). ( 21957792 )
2011
39
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. ( 21468557 )
2011
40
Symmetric lower lip pits - Van Der Woude syndrome. ( 21999450 )
2011
41
Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. ( 20196077 )
2010
42
Wound complications after cleft repair in children with Van der Woude syndrome. ( 20856020 )
2010
43
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. ( 19536562 )
2010
44
The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. ( 20660977 )
2010
45
Highlighted article: "identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse" by Stottmann, Bjork, Doyle, and Beier. ( 20461822 )
2010
46
Van der Woude syndrome: dentofacial features and implications for clinical practice. ( 20415912 )
2010
47
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. ( 20856073 )
2010
48
Lower lip pits in a patient with van der Woude syndrome. ( 20818247 )
2010
49
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. ( 20184620 )
2010
50
Isolated lower lip fistulas in Van der Woude syndrome. ( 19816310 )
2009

Variations for Van Der Woude Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome 1:

76 (show all 34)
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Ala2Val VAR_014961 rs28942093
2 IRF6 p.Val18Ala VAR_014962
3 IRF6 p.Val18Met VAR_014963
4 IRF6 p.Pro39Ala VAR_014964
5 IRF6 p.Ala61Gly VAR_014966
6 IRF6 p.Gly70Arg VAR_014968 rs776236749
7 IRF6 p.Pro76Ser VAR_014969 rs886039388
8 IRF6 p.Asn88His VAR_014973
9 IRF6 p.Ser90Gly VAR_014975
10 IRF6 p.Asp98His VAR_014976
11 IRF6 p.Arg250Gln VAR_014977
12 IRF6 p.Gln273Arg VAR_014978
13 IRF6 p.Leu294Pro VAR_014981
14 IRF6 p.Val297Ile VAR_014982
15 IRF6 p.Lys320Glu VAR_014983
16 IRF6 p.Val321Met VAR_014984
17 IRF6 p.Gly325Glu VAR_014985
18 IRF6 p.Leu345Pro VAR_014986
19 IRF6 p.Cys347Phe VAR_014987
20 IRF6 p.Phe369Ser VAR_014988 rs118541231
21 IRF6 p.Cys374Trp VAR_014989
22 IRF6 p.Lys388Glu VAR_014990
23 IRF6 p.Arg6Cys VAR_030046 rs28942094
24 IRF6 p.Ala16Val VAR_030047
25 IRF6 p.Leu22Pro VAR_030048 rs387906967
26 IRF6 p.Arg45Gln VAR_030049 rs121434229
27 IRF6 p.Thr64Ile VAR_030050
28 IRF6 p.Arg84Gly VAR_030051
29 IRF6 p.Thr100Ala VAR_030052
30 IRF6 p.Leu251Pro VAR_030053
31 IRF6 p.Glu349Val VAR_030054
32 IRF6 p.Pro396Ser VAR_030055 rs121434230
33 IRF6 p.Arg400Trp VAR_030056 rs28942095
34 IRF6 p.Arg339Ile VAR_059080 rs121434231

ClinVar genetic disease variations for Van Der Woude Syndrome 1:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
2 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
3 IRF6 NM_006147.3(IRF6): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121434224 GRCh37 Chromosome 1, 209969798: 209969798
4 IRF6 NM_006147.3(IRF6): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121434224 GRCh38 Chromosome 1, 209796453: 209796453
5 IRF6 NM_006147.3(IRF6): c.870_888del19insA (p.Phe290_Asp296delinsLeu) indel Pathogenic rs587776569 GRCh37 Chromosome 1, 209964012: 209964030
6 IRF6 NM_006147.3(IRF6): c.870_888del19insA (p.Phe290_Asp296delinsLeu) indel Pathogenic rs587776569 GRCh38 Chromosome 1, 209790667: 209790685
7 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh37 Chromosome 1, 209969822: 209969822
8 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh38 Chromosome 1, 209796477: 209796477
9 IRF6 NM_006147.3(IRF6): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs28942093 GRCh37 Chromosome 1, 209974754: 209974754
10 IRF6 NM_006147.3(IRF6): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs28942093 GRCh38 Chromosome 1, 209801409: 209801409
11 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
12 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh38 Chromosome 1, 209801398: 209801398
13 IRF6 NM_006147.3(IRF6): c.1137G> A (p.Trp379Ter) single nucleotide variant Pathogenic rs121434228 GRCh37 Chromosome 1, 209963054: 209963054
14 IRF6 NM_006147.3(IRF6): c.1137G> A (p.Trp379Ter) single nucleotide variant Pathogenic rs121434228 GRCh38 Chromosome 1, 209789709: 209789709
15 IRF6 NM_006147.3(IRF6): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs28942095 GRCh37 Chromosome 1, 209961971: 209961971
16 IRF6 NM_006147.3(IRF6): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs28942095 GRCh38 Chromosome 1, 209788626: 209788626
17 IRF6 NC_000001.11: g.209782473_209799634del17162 deletion Pathogenic GRCh38 Chromosome 1, 209782473: 209799634
18 IRF6 NC_000001.11: g.209782473_209799634del17162 deletion Pathogenic GRCh37 Chromosome 1, 209955818: 209972979
19 IRF6 NM_006147.3(IRF6): c.134G> A (p.Arg45Gln) single nucleotide variant Pathogenic rs121434229 GRCh37 Chromosome 1, 209974625: 209974625
20 IRF6 NM_006147.3(IRF6): c.134G> A (p.Arg45Gln) single nucleotide variant Pathogenic rs121434229 GRCh38 Chromosome 1, 209801280: 209801280
21 IRF6 NM_006147.3(IRF6): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs121434230 GRCh37 Chromosome 1, 209961983: 209961983
22 IRF6 NM_006147.3(IRF6): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs121434230 GRCh38 Chromosome 1, 209788638: 209788638
23 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
24 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh38 Chromosome 1, 209790539: 209790539
25 ACTA1 NM_001100.3(ACTA1): c.49G> C (p.Gly17Arg) single nucleotide variant Pathogenic rs121909521 GRCh37 Chromosome 1, 229568814: 229568814
26 ACTA1 NM_001100.3(ACTA1): c.49G> C (p.Gly17Arg) single nucleotide variant Pathogenic rs121909521 GRCh38 Chromosome 1, 229433067: 229433067
27 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
28 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh38 Chromosome 1, 209801349: 209801349
29 IRF6 NM_006147.3(IRF6): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs397515434 GRCh37 Chromosome 1, 209974614: 209974614
30 IRF6 NM_006147.3(IRF6): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs397515434 GRCh38 Chromosome 1, 209801269: 209801269
31 IRF6 NM_006147.3(IRF6): c.1199G> A (p.Arg400Gln) single nucleotide variant Pathogenic rs200166664 GRCh37 Chromosome 1, 209961970: 209961970
32 IRF6 NM_006147.3(IRF6): c.1199G> A (p.Arg400Gln) single nucleotide variant Pathogenic rs200166664 GRCh38 Chromosome 1, 209788625: 209788625
33 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh37 Chromosome 1, 209963038: 209963038
34 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh38 Chromosome 1, 209789693: 209789693
35 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh37 Chromosome 1, 209964080: 209964080
36 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh38 Chromosome 1, 209790735: 209790735
37 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh37 Chromosome 1, 209964141: 209964141
38 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh38 Chromosome 1, 209790796: 209790796
39 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh37 Chromosome 1, 209968684: 209968684
40 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh38 Chromosome 1, 209795339: 209795339
41 IRF6 NM_006147.3(IRF6): c.175-5C> G single nucleotide variant Benign rs7552506 GRCh37 Chromosome 1, 209969902: 209969902
42 IRF6 NM_006147.3(IRF6): c.175-5C> G single nucleotide variant Benign rs7552506 GRCh38 Chromosome 1, 209796557: 209796557
43 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
44 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
45 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh38 Chromosome 1, 209785948: 209785948
46 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh37 Chromosome 1, 209959293: 209959293
47 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh38 Chromosome 1, 209786742: 209786742
48 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh37 Chromosome 1, 209960087: 209960087
49 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh38 Chromosome 1, 209786947: 209786947
50 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh37 Chromosome 1, 209960292: 209960292

Copy number variations for Van Der Woude Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome

Expression for Van Der Woude Syndrome 1

Search GEO for disease gene expression data for Van Der Woude Syndrome 1.

Pathways for Van Der Woude Syndrome 1

Pathways related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 SRGAP2 SRGAP3
2 9.53 IRF6 TFAP2A

GO Terms for Van Der Woude Syndrome 1

Biological processes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eyelid development in camera-type eye GO:0061029 8.62 GRHL3 TFAP2A

Molecular functions related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 SRGAP2 SRGAP3

Sources for Van Der Woude Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
51 NCIt
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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